(used for variant description)
(last modified June 6, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_020433.4 in the JPH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering JPH2 transcript NM_020433.4.
(upstream sequence)
. . . g.5033
ggattttcagtgttccaggactgggtgttctgc c.-841
. . . . . . g.5093
tggtctccctctcccctcccttccccgattccccggtgccctccctgcgcgcagacccag c.-781
. . . . . . g.5153
gggactctgagaatggaagggagctctcattcccgggaggaaaagacaccaggttccctg c.-721
. . . . . . g.5213
ggctgcctgcactcagttctcagcctccttcctcatgcctccagccactgcccgggtctg c.-661
. . . . . . g.5273
cggcacgggcgcgatttgaaatacccctccttcccgctttgaagaaggctgggctggctg c.-601
. . . . . . g.5333
ggggttattttgggagcagcttctgagatccaatggccttgttagggcaacactgacctt c.-541
. . . . . . g.5393
tccgtcccagaaggagggcaggattggagaagggggcggggcagcggcggggagaccgac c.-481
. . . . . . g.5453
agccccgcacacccactggggtggagaagggggccagcgggctgcgggaattcagcctcc c.-421
. . . . . . g.5513
ggcgggggctgccaccgaggggaatttcccctctttgaaaaggctggggacccctccacc c.-361
. . . . . . g.5573
ccaccctttcactgggcttcttaaagagatcacaccgttttcccttggacttcttggaag c.-301
. . . . . . g.5633
gcagacttgggacgctttgtggggactttgaacctttccttcctgctttctttccagcag c.-241
. . . . . . g.5693
gcagccttgctctggctggtggagtcggggctcccgggcatggcactgactagccgaccc c.-181
. . . . . . g.5753
ggtgctgacttggcgccggggctctttcagcctctgctggcatcctgcttcccccctcct c.-121
. . . . . . g.5813
ggggtgcagtggtgagtctgggggcctgcccccgagggcactggaggagtgttgcaggca c.-61
. . . . . . g.5873
tcacccacgccctctgcacccacgctggaggacggggaggttgtcaggggctatgatgag c.-1
. . . . . . g.5933
ATGAGTGGGGGCCGCTTCGACTTTGATGATGGAGGGGCGTACTGCGGGGGCTGGGAGGGG c.60
M S G G R F D F D D G G A Y C G G W E G p.20
. . . . . . g.5993
GGAAAGGCCCATGGGCATGGACTGTGCACAGGCCCCAAGGGCCAGGGCGAATACTCTGGC c.120
G K A H G H G L C T G P K G Q G E Y S G p.40
. . . . . . g.6053
TCCTGGAACTTTGGCTTTGAGGTGGCAGGTGTCTACACCTGGCCCAGCGGAAACACCTTT c.180
S W N F G F E V A G V Y T W P S G N T F p.60
. . . . . . g.6113
GAGGGATACTGGAGCCAGGGCAAACGGCATGGGCTGGGCATAGAGACCAAGGGGCGCTGG c.240
E G Y W S Q G K R H G L G I E T K G R W p.80
. . . . . . g.6173
CTCTACAAGGGCGAGTGGACACATGGCTTCAAGGGACGCTACGGAATCCGGCAGAGCTCA c.300
L Y K G E W T H G F K G R Y G I R Q S S p.100
. . . . . . g.6233
AGCAGCGGTGCCAAGTATGAGGGCACCTGGAACAATGGCCTGCAAGACGGCTATGGCACC c.360
S S G A K Y E G T W N N G L Q D G Y G T p.120
. | 02 . . . . g.32212
GAGACCTATGCTGATGGAG | GGACGTACCAAGGCCAGTTCACCAACGGCATGCGCCATGGC c.420
E T Y A D G G | T Y Q G Q F T N G M R H G p.140
. . . . . . g.32272
TACGGAGTACGCCAGAGCGTGCCCTACGGGATGGCCGTGGTGGTGCGCTCGCCGCTGCGC c.480
Y G V R Q S V P Y G M A V V V R S P L R p.160
. . . . . . g.32332
ACGTCGCTGTCGTCCCTGCGCAGCGAGCACAGCAACGGCACGGTGGCCCCGGACTCTCCC c.540
T S L S S L R S E H S N G T V A P D S P p.180
. . . . . . g.32392
GCCTCGCCGGCCTCCGACGGCCCCGCGCTGCCCTCGCCCGCCATCCCGCGTGGCGGCTTC c.600
A S P A S D G P A L P S P A I P R G G F p.200
. . . . . . g.32452
GCGCTCAGCCTCCTGGCCAATGCCGAGGCGGCCGCGCGGGCGCCCAAGGGCGGCGGCCTC c.660
A L S L L A N A E A A A R A P K G G G L p.220
. . . . . . g.32512
TTCCAGCGGGGCGCGCTGCTGGGCAAGCTGCGGCGCGCAGAGTCGCGCACGTCCGTGGGT c.720
F Q R G A L L G K L R R A E S R T S V G p.240
. . . . . . g.32572
AGCCAGCGCAGCCGTGTCAGCTTCCTTAAGAGCGACCTCAGCTCGGGCGCCAGCGACGCC c.780
S Q R S R V S F L K S D L S S G A S D A p.260
. . . . . . g.32632
GCGTCCACCGCCAGCCTGGGAGAGGCCGCCGAGGGCGCCGACGAGGCCGCACCCTTCGAG c.840
A S T A S L G E A A E G A D E A A P F E p.280
. . . . . . g.32692
GCCGATATCGACGCCACCACCACCGAGACCTACATGGGCGAGTGGAAGAACGACAAACGC c.900
A D I D A T T T E T Y M G E W K N D K R p.300
. . . . . . g.32752
TCGGGCTTCGGCGTGAGCGAACGCTCCAGTGGCCTCCGCTACGAGGGCGAGTGGCTGGAC c.960
S G F G V S E R S S G L R Y E G E W L D p.320
. . . . . . g.32812
AACCTGCGCCACGGCTATGGCTGCACCACGCTGCCCGACGGCCACCGCGAGGAGGGCAAG c.1020
N L R H G Y G C T T L P D G H R E E G K p.340
. . . . . . g.32872
TACCGCCACAACGTGCTGGTCAAGGACACCAAGCGCCGCATGCTGCAGCTCAAGAGCAAC c.1080
Y R H N V L V K D T K R R M L Q L K S N p.360
. . . . . . g.32932
AAGGTCCGCCAGAAAGTGGAGCACAGTGTGGAGGGTGCCCAGCGCGCCGCTGCTATCGCG c.1140
K V R Q K V E H S V E G A Q R A A A I A p.380
. . | 03 . . . g.73986
CGCCAGAAGGCCGAGATTGCCGCCTCCAG | GACAAGCCACGCCAAGGCCAAAGCTGAGGCA c.1200
R Q K A E I A A S R | T S H A K A K A E A p.400
. . . . . . g.74046
GCGGAACAGGCCGCCCTGGCTGCCAACCAGGAGTCCAACATTGCTCGCACTTTGGCCAGG c.1260
A E Q A A L A A N Q E S N I A R T L A R p.420
. . | 04 . . . g.76224
GAGCTGGCTCCGGACTTCTACCAGCCAG | GTCCGGAATATCAGAAGCGCCGGCTGCTGCAG c.1320
E L A P D F Y Q P G | P E Y Q K R R L L Q p.440
. . . . . . g.76284
GAGATCCTGGAGAACTCGGAGAGCCTGCTGGAGCCCCCCGACCGGGGCGCCGGCGCAGCG c.1380
E I L E N S E S L L E P P D R G A G A A p.460
. . . . . . g.76344
GGCCTCCCACAGCCGCCCCGCGAGAGCCCGCAGCTGCACGAGCGTGAGACCCCTCGGCCC c.1440
G L P Q P P R E S P Q L H E R E T P R P p.480
. . . . . . g.76404
GAGGGTGGCTCCCCGTCACCGGCCGGGACGCCCCCGCAGCCCAAGCGGCCCAGGCCCGGG c.1500
E G G S P S P A G T P P Q P K R P R P G p.500
. . . . . . g.76464
GTGTCCAAGGACGGCCTGCTGAGCCCAGGCGCCTGGAACGGCGAGCCCAGCGGTGAGGGC c.1560
V S K D G L L S P G A W N G E P S G E G p.520
. . . . . . g.76524
AGCCGGTCAGTCACTCCGTCCGAGGGCGCGGGCCGCCGCAGCCCCGCGCGTCCAGCCACC c.1620
S R S V T P S E G A G R R S P A R P A T p.540
. . . . . . g.76584
GAGCGCATGGCCATCGAGGCTCTGCAGGCACCGCCTGCGCCGTCGCGGGAGCCGGAGGTG c.1680
E R M A I E A L Q A P P A P S R E P E V p.560
. . . . . . g.76644
GCGCTTTACCAGGGCTACCACAGCTATGCTGTGCGCACCACGCCGCCCGAGCCCCCACCC c.1740
A L Y Q G Y H S Y A V R T T P P E P P P p.580
. . . . . . g.76704
TTTGAGGACCAGCCCGAGCCCGAGGTCTCCGGGTCCGAGTCCGCGCCCTCGTCCCCGGCC c.1800
F E D Q P E P E V S G S E S A P S S P A p.600
. . . . . . g.76764
ACCGCCCCGCTGCAGGCCCCCACGCTCCGAGGCCCCGAGCCTGCACGCGAGACCCCCGCC c.1860
T A P L Q A P T L R G P E P A R E T P A p.620
. . . . . . g.76824
AAGCTGGAGCCCAAGCCCATCATCCCCAAAGCCGAGCCCAGGGCCAAGGCCCGCAAGACT c.1920
K L E P K P I I P K A E P R A K A R K T p.640
. . . . . . g.76884
GAGGCTCGAGGGCTGACCAAGGCGGGGGCCAAGAAGAAGGCGCGGAAGGAGGCCGCACTG c.1980
E A R G L T K A G A K K K A R K E A A L p.660
. . . | 05 . . . g.77732
GCGGCAGAGGCGGAGGTGGAGGTGGAAGAG | GTCCCCAACACCATCCTCATCTGCATGGTG c.2040
A A E A E V E V E E | V P N T I L I C M V p.680
. . . . . g.77783
ATCCTGCTGAACATCGGCCTGGCCATCCTCTTTGTTCACCTCCTGACCTGA c.2091
I L L N I G L A I L F V H L L T X p.696
. | 06 . . . . . g.79121
ccgtcgcttaccag | agccagaagttcctgctgaggacatgaggacccgtctttttgcagt c.*60
. . . . . . g.79181
gccaggcagggtggccaaagaggactggactctggacctggagccccgtggtccagttca c.*120
. . . . . . g.79241
cattcaccccacaagagtttcaggaggcctcccacggtgcctgtgctgggtggcggtggt c.*180
. . . . . . g.79301
ggtgccaagaggaatggaatgtcctgggctccttcaggagctctctacccaggggcaagg c.*240
. . . . . . g.79361
agagcccagagagaagcgccctggtctcttgagcttcctgatctgctcctgtcccccgct c.*300
. . . . . . g.79421
ctcctccactcccttgcctttccctaggttgtcccctccctgggcttttgtgtgttttgg c.*360
. . . . . . g.79481
gagatgtcacctaaccaggacattgatattcaatcccatcccccttcctcccaccctgcc c.*420
. . . . . . g.79541
ccactttgatttaatcctttggctgtgggctgaggcctcccagggaagctgggtggggtg c.*480
. . . . . . g.79601
ggtgttgagaccccctcagaccagcacagagacctgtccttgtgcagtctgcaccctgca c.*540
. . . . . . g.79661
ctccctcccttgcctgtagatgttctggatgacagtagaggaaatggacaaggtcagttt c.*600
. . . . . . g.79721
gaatatcccagaacacagtgctctgtctcctcccaccagtccagttagcttcccttctgg c.*660
. . . . . . g.79781
accaatagacgaggggagaccccatggatcctctggctgggaagccactgaccaggtggc c.*720
. . . . . . g.79841
cagggggcagggtgggaagaggggttaaggtgcagtgatgatggcctgttttggagtgtg c.*780
. . . . . . g.79901
tctgagactgggattgcatttggggtttcccgtgtgcttgggatgctagagggtcacctg c.*840
. . . . . . g.79961
caggaggcctggggccggcgagaaatctcctgtgatgccctgtgaaatggcttgtctcct c.*900
. . . . . . g.80021
cccccatcagggcccaccgaaagctcaggggagcacagaagcccatggaagcccagggag c.*960
. . . . . . g.80081
atgtccctggggcagacactaaggcaggtgttgaagacaagctgcttgtcaagaagcatt c.*1020
. . . . . . g.80141
tcccggcaagagaggggcaagtctggggctccaactgggtacagcctgggtgcagttata c.*1080
. . . . . . g.80201
agcccctttggcttacttggtagaagatggctacttggatgtacctcacttaaagatgtt c.*1140
. . . . . . g.80261
ttgtaccacactaggtctctgggcccttgtgcttcctgtgggtggggtgagggccaaagg c.*1200
. . . . . . g.80321
ctatggtttcctgcctccaggagaatggagagaaagggcttccaggcccctccaagcctg c.*1260
. . . . . . g.80381
gggaaggacgtggcatccaagctgagccagagggaactgctgctgtcctcccttcatttc c.*1320
. . . . . . g.80441
tgtggaccttggaggctttggctttgtggcagggcctccccaggcagctctgggacctag c.*1380
. . . . . . g.80501
gagtttgcttctgatagggtcagctttcccatttcccttcaatgcttgggaaccttctcc c.*1440
. . . . . . g.80561
cttagcttcacacttgccgtttcaagccctgctgggaccttgtggcttggctggaatcca c.*1500
. . . . . . g.80621
ggactgtattttcatggagaagaacctgcagattcttccatcctcagctggccatggccc c.*1560
. . . . . . g.80681
acagctctgcatctgcatctgagcttctcaagactcctggagcatgaggggaatggggcg c.*1620
. . . . . . g.80741
gggccactgctctgtgctgacgggctccgtctcggagattcttgtcctgttttttttctg c.*1680
. . . . . . g.80801
ttgtttttttttggctggtgctggggacaagcctgtgcctgccaaagctcccaggccaag c.*1740
. . . . . . g.80861
tttgggggctggtgtttggggttgggtttggggttcaggatgctgcagtctgtgcaataa c.*1800
. . g.80882
taaacccgcatctgctcacgg c.*1821
(downstream sequence)
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